Exon | BIC nomenclature | HGVS nomenclature | Predicted effect | N families | Families origen | Comments |
---|---|---|---|---|---|---|
3 | c.262_263delCT | p.Leu88Alafs | 1 | Andalucía | Novel | |
10 | 2041insA | c.1813dupA | p.Ile605Asnfs | 2 | Asturias | Worldwide |
11 | c.2095 C>T | p.Gln699* | 3 | Asturias | Novel | |
11 | 3058A>T | c.2830A>T | p.Lys944* | 1 | Dominican Republic | Worldwide |
11 | c.3263dupC | p.Gln1089Serfs | 1 | Albacete | Novel | |
11 | c.4030_4035delinsC | p.Asn1344Hisfs | 6 | Asturias | Novel | |
11 | 4859insA | c.4631dupA | p.Asn1544Lysfs | 1 | Asturias | Europe |
11 | 5344del4 | c.5116_5119delAATA | p.Asn1706Leufs | 1 | Castilla/León | Castilla/León, Founder |
11 | 5804del4 | c.5576_5579delTTAA | p.Ile1859Lysfs | 1 | País Vasco | País Vasco |
18 | c.8042_8043delCA | p.Thr2681Serfs | 1 | Andalucía | Novel | |
23 | 9254del5 | c.9026_9030delATCAT | p.Tyr3009Serfs | 1 | Cantabria | Cataluña, Founder |
25 | 9538delAA | c.9310_9311delAA | p.Lys3104Valfs | 1 | Castilla/León | Castilla/León, Founder |